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10 p, 1.4 MB |
Cardiac and pulmonary findings in dysferlinopathy : A 3-year, longitudinal study
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Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Harris, Elizabeth (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Guglieri, Michela (Newcastle University) ;
Rufibach, Laura E. (The Jain Foundation) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Blamire, Andrew (Translational and Clinical Research Institute. Newcastle University) ;
Carlier, Pierre G. (University Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ;
Spuler, Simone (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W (Stanford University School of Medicine) ;
Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (Service des maladies neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Stojkovic, Tanya (Sorbonne Université) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Pegoraro, Elena (Department of Neuroscience. University of Padova) ;
Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Mendell, Jerery R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Bourke, John (Department of Cardiology. Freeman Hospital. NUTH NHS Hospitals Foundation Trust) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Introduction/Aims: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype. [...]
2022 -  10.1002/mus.27524
Muscle & nerve, Vol. 65 Núm. 5 (may 2022) , p. 531-540
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10 p, 585.1 KB |
Water T2 could predict functional decline in patients with dysferlinopathy
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Moore, Ursula. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Caldas de A. Araújo, Ericky (NMR Laboratory. CEA/DRF/IBFJ/MIRCen) ;
Reyngoudt, Harmen (NMR Laboratory. CEA/DRF/IBFJ/MIRCen) ;
Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Smith, Fiona E. (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
Wilson, Ian (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
James, Meredith (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mayhew, Anna (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Rufibach, Laura (Jain Foundation) ;
Day, John W. (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ;
Jones, Kristi J. (The Children's Hospital at Westmead and The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (Service des maladies neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Stojkovic, Tanya (Centre de référence des maladies neuromusculaires. Institut de Myologie. AP-HP. Sorbonne Université. Hôpital Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Pegoraro, Elena (Department of Neuroscience. University of Padova) ;
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
Straub, Volker (Newcastle University) ;
Carlier, Pierre G. (Université Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Background: Water T2 (T2) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials. Here, we investigated the prognostic utility of T2 to identify changes in muscle function over time in limb girdle muscular dystrophies. [...]
2022 - 10.1002/jcsm.13063
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 Núm. 6 (december 2022) , p. 2888-2897
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10 p, 1.7 MB |
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy : A Rasch Analysis Approach
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Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Sutherland, Helen (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Alfano, Lindsay N. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Muni Lofra, Robert (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Rufibach, Laura E. (The Jain Foundation) ;
Rose, Kristy (The Children's Hospital at Westmead. The University of Sydney) ;
Duong, Tina (Lucile Salter Packard Children's Hospital at Stanford. Neurology) ;
Bello, Luca (Department of Neuroscience. University of Padova) ;
Pedrosa-Hernández, Irene (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Holsten, S. (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry Tokyo) ;
Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Sánchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Thiele, S. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians-University of Munich) ;
Siener, C. (Department of Neurology. Washington University School of Medicine) ;
Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group. Children's National Health System) ;
Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ;
Gordish-Dressman, H. (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Hilsden, H. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Hogrel, J.Y. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ;
Carlier, Pierre G. (Pitié-Salpêtrière University Hospital) ;
Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W. (Stanford University School of Medicine) ;
Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, M.C. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians-University of Munich) ;
Paradas, C. (Instituto de Biomedicina de Sevilla) ;
Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (University of Padova) ;
Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Jain COS Consortium, None (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Straub, V. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. [...]
2022 - 10.3389/fneur.2022.828525
Frontiers in neurology, Vol. 13 (october 2022) , p. 828525
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13 p, 3.4 MB |
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
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Domínguez-González, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fernández-Torrón, Roberto (Servicio de Neurología. Instituto de Investigación Sanitaria Biodonostia. Área neuromuscular. Hospital Donostia. Servicio Vasco de Salud) ;
Moore, Ursula (John Walton Muscular Dystrophy Research Center. University of Newcastle) ;
de Fuenmayor-Fernández de la Hoz, Carlos Pablo (Hospital Universitario 12 de Octubre (Madrid). Servicio de Neurología) ;
Vélez-Gómez, Beatriz (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Cabezas, Juan Antonio (Hospital Universitario Virgen del Rocío. Unidad de Enfermedades Neuromusculares. Servicio de Neurología. Instituto de Biomedicina de Sevilla) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
González-Mera, Laura (Institut d'Investigació Biomèdica de Bellvitge) ;
Olive, Montse (Institut d'Investigació Biomèdica Sant Pau) ;
García-García, Jorge (Hospital Universitario de Albacete. Departamento de Neurología) ;
Morís, Germán (Hospital Universitario Central de Asturias) ;
León Hernández, Juan Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Servian-Morilla, Emilia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Martin, Miguel A. (Hospital Universitario 12 de Octubre (Madrid)) ;
Diaz-Manera, Jordi (John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute Central Parkway) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Universitat Autònoma de Barcelona
Background and objective: TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. [...]
2022 - 10.1007/s00415-021-10957-0
Journal of Neurology, Vol. 269 Núm. 7 (july 2022) , p. 3550-3562
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16 p, 4.6 MB |
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
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Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Gordish-Dressman, Heather (George Washington University) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Guglieri, Michela (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Fernandez-Torron, Roberto (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Rufibach, Laura E. (The Jain Foundation) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
Carlier, Pierre G. (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ;
Spuler, Simone (Charite Muscle Research Unit. Experimental and Clinical Research Center. a Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W (Stanford University School of Medicine) ;
Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (Service des maladies neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Stojkovic, Tanya (Sorbonne Université) ;
Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Pegoraro, Elena (University of Padova) ;
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). [...]
2021 - 10.1016/j.nmd.2021.01.009
Neuromuscular Disorders, Vol. 31 Núm. 4 (april 2021) , p. 265-280
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12 p, 2.7 MB |
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
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Jacobs, M.B. (Pediatrics. Epidemiology. and Biostatistics. George Washington University) ;
James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Alfano, Lindsay N (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Eagle, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Muni Lofra, R. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Moore, U. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Feng, J. (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Rufibach, L.E. (The Jain Foundation) ;
Rose, K. (The Children's Hospital at Westmead. The University of Sydney) ;
Duong, T. (Lucile Salter Packard Children's Hospital at Stanford) ;
Bello, Luca (Department of Neuroscience. University of Padova) ;
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Sanchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Thiele, S. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ;
Siener, C. (Department of Neurology Washington University School of Medicine) ;
Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group (CINRG). Children's National Health System) ;
Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ;
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Hogrel, J.Y. (Institut de Myologie (París, França)) ;
Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ;
Carlier, Pierre G (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ;
Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ;
Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, Maggie C (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ;
Paradas, C. (Instituto de Biomedicina de Sevilla) ;
Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (University of Padova) ;
Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Mayhew, A.G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Objective: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. [...]
2021 - 10.1002/ana.26044
Annals of neurology, Vol. 89 Núm. 5 (may 2021) , p. 967-978
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11 p, 757.3 KB |
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
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Sivera, Rafael (Hospital Francesc de Borja) ;
Lupo, Vincenzo (Unit of Rare Neurodegenerative Diseases Felipe. Centro de Investigación Príncipe) ;
Frasquet, Marina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Argente-Escrig, Herminia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Querol, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
del Mar García-Romero, Maria (Universidad Autónoma de Madrid. Departamento de Pediatría) ;
Ignacio Pascual, Samuel (Universidad Autónoma de Madrid. Departamento de Pediatría) ;
García-Sobrino, Tania (Complejo Hospitalario Universitario de Santiago de Compostela) ;
Paradas, Carmen (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Francisco Vázquez-Costa, Juan (Universitat de València. Departament de Medicina) ;
Muelas, Nuria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Millet, Elvira (Hospital Universitari i Politècnic La Fe (València)) ;
Vílchez, Juan Jesús (Universitat de València. Departament de Medicina) ;
Espinós, Carmen (Unit of Rare Neurodegenerative Diseases Felipe. Centro de Investigación Príncipe) ;
Sevilla, T. (Universitat de València. Departament de Medicina) ;
Universitat Autònoma de Barcelona
IIB.
Background and purpose: MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive phenotypical description and, if possible, to establish a genotype-phenotype correlation. [...]
2021 - 10.1111/ene.15001
European Journal of Neurology, Vol. 28 Núm. 9 (september 2021) , p. 3001-3011
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9 p, 2.5 MB |
Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency
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Domínguez-González, C (Instituto de Salud Carlos III) ;
Madruga-Garrido, Marcos (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Hirano, Michio (Columbia University Medical Center) ;
Martí, Itxaso (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ;
Nascimento, Andrés (Institut de Recerca Sant Joan de Déu) ;
Olive, Montse (Institut d'Investigació Biomèdica Sant Pau) ;
Quan, Joanne (Zogenix. Inc.) ;
Sardina, Maria Dolores (Complejo Hospitalario Universitario de Badajoz) ;
Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Paradas, Carmen (Instituto de Salud Carlos III) ;
Universitat Autònoma de Barcelona
Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. [...]
2021 - 10.1186/s13023-021-02030-w
Orphanet Journal of Rare Diseases, Vol. 16 Núm. 1 (december 2021) , p. 407
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10 p, 758.5 KB |
Drug-refractory myasthenia gravis : Clinical characteristics, treatments, and outcome
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Cortés-Vicente, Elena (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Álvarez-Velasco, Rodrigo (Institut d'Investigació Biomèdica Sant Pau) ;
Pla-Junca, Francesc (Instituto de Salud Carlos III) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Sevilla, Teresa (Universitat de València. Departament de Medicina) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Gómez-Caravaca, María Teresa (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Pardo, Julio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Pelayo-Negro, Ana Lara (Universidad de Cantabria) ;
Gutiérrez-Gutiérrez, Gerardo (Universidad Europea de Madrid) ;
Turon-Sans, Janina (Universitat Autònoma de Barcelona. Departament de Medicina) ;
López de Munain, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Guerrero-Sola, Antonio (Hospital Clínico San Carlos (Madrid)) ;
Jericó, Ivonne (Instituto de Investigación Sanitaria de Navarra) ;
Martín, María Asunción (Complejo Asistencial Hospitalario de Burgos) ;
Mendoza, María Dolores (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Morís, Germán (Hospital Universitario Central de Asturias) ;
Vélez-Gómez, Beatriz (Universidad de Sevilla) ;
García-Sobrino, Tania (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Pascual-Goñi, Elba (Institut d'Investigació Biomèdica Sant Pau) ;
Reyes-Leiva, David (Institut d'Investigació Biomèdica Sant Pau) ;
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau)
To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. This observational retrospective cross-sectional multicenter study was based on data from the Spanish MG Registry (NMD-ES). [...]
2022 - 10.1002/acn3.51492
Annals of Clinical and Translational Neurology, Vol. 9 Núm. 2 (january 2022) , p. 122-131
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Late-onset thymidine kinase 2 deficiency : a review of 18 cases
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Domínguez-González, C (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Hernández-Laín, Aurelio (Hospital Universitario 12 de Octubre (Madrid)) ;
Rivas, Eloy (Universidad de Sevilla) ;
Hernández Voth, Ana (Hospital Universitario 12 de Octubre (Madrid)) ;
Sayas Catalán, Javier (Hospital Universitario 12 de Octubre (Madrid)) ;
Fernández-Torrón, Roberto (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Fuiza-Luces, Carmen (Hospital Universitario 12 de Octubre (Madrid)) ;
García García, Jorge (Complejo Hospitalario Universitario de Albacete) ;
Morís, Germán (Hospital Universitario Central de Asturias) ;
Olive, Montse (Institut d'Investigació Biomèdica de Bellvitge) ;
Miralles, Frances (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Caballero Sahelices, Concesa (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ;
Méndez-Ferrer, Bosco (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Martí, Ramon A. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Badosa, María Carmen (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Esteban, Jesús (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Jiménez Mallebrera, Cecilia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Encinar, Alberto Blazquez (Hospital Universitario 12 de Octubre (Madrid)) ;
Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ;
Hirano, Michio (Columbia University Medical Center, New York) ;
Martin, Miguel Ángel (Hospital Universitario 12 de Octubre (Madrid)) ;
Paradas, Carmen (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. [...]
2019 - 10.1186/s13023-019-1071-z
Orphanet Journal of Rare Diseases, Vol. 14 (may 2019)
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